SCREENING FOR
LYSOSOMAL
STORAGE DISORDERS (LSD)
PerkinElmer Genetics, a technology leader in newborn screening services,
now offers screening for six Lysosomal Storage Disorders (LSD). Early detection leading to early intervention has been shown to provide the best
chance for a positive outcome. PerkinElmer Genetics uses tandem mass
spectrometry (MS/MS) methodology¹ to measure enzyme activity in order
to detect infants at risk for having a lysosomal storage disorder. Our
Genetic Counseling team will communicate abnormal screening results to
the pediatrician or health care professional, provide clinical information
about the disorder, and provide recommendations for confirmatory testing
through a metabolic treatment center. Assistance is also provided to connect the pediatrician or health care professional with metabolic or LSD
specialists for follow-up care.
Overview of Lysosomal Storage Disorders
Lysosomal storage disorders develop as a result of an enzyme deficiency or
malfunction that causes cell waste to build up within the cell instead of
being excreted. There are approximately 50 known LSDs, each caused by a
unique gene mutation which leads to a disease-specific enzyme that is deficient or malfunctioning. The stored cellular waste is also disease-specific,
which helps in diagnosing the particular LSD. Almost all LSDs are inherited
in an autosomal recessive fashion; one exception is Fabry Disease, which
follows X-linked recessive inheritance. Each LSD has its own incidence rate,
but as a group, LSDs occur in 1:5,000 to 1:10,000 births in the United
States. Early detection and diagnosis are paramount to ensure timely intervention before irreversible symptoms occur.
Lysosomal Storage
Disorders screened by
PerkinElmer Genetics:
Fabry Disease
(-galactosidase deficiency)
Gaucher Disease
(glucocerebrosidase deficiency)
Pompe Disease
(glycogen storage disease type II)
Krabbe Disease
(galactocerebrosidase deficiency)
Hurler Syndrome
(mucopolysaccharidosis I, MPS-I)
Niemann-Pick A/B Disease
(acid sphingomyelinase deficiency)
Common Clinical Symptoms:
• Coarse Facial Features
• Bone Abnormalities
• Joint Stiffness
• Burning Sensations
• Corneal Clouding
• Enlarged Liver or Spleen
• Developmental Delay
• Ataxia
• Seizures
• Loss of Learned Skills
is most effective in treating non-neurologic symptoms in diseases such
as Gaucher, Fabry, MPS-I, and Pompe Disease. Hematopoietic stem cell
transplantation (HSCT), using either bone marrow or cord blood to provide healthy stem cells that can produce the needed enzyme, is useful
in treating diseases with neurologic symptoms, such as Krabbe,
Gaucher Type II and MPS-I. Gene therapy has limited availability for
some disorders, though mostly available as a part of clinical trials.
Specimen Requirements
Dried blood spots with a minimum of 25 μl of blood on 903,226 or
other FDA cleared filter paper.
Clinical Features
There are a wide range of neurologic and non-neurologic clinical symptoms. The onset of symptoms can occur from infancy to adulthood.
Some disorders are not known to have neurologic features, while others include a wide range of neurologic symptoms, which may or may
not include other visible physical characteristics. Pre-symptomatic treatment of LSDs known to have neurological symptoms is very important,
as damage from these symptoms is irreversible.
Turn-Around Time
72 hours from receipt of specimen.
For More Information
Please contact PerkinElmer Genetics at 866-463-6436 or visit
www.perkinelmergenetics.com
Treatment Options
Treatment for LSDs mainly involves treating the symptoms, not the disorder. There is no known cure for LSDs at this time, but emerging therapies are constantly being developed. Enzyme replacement therapy (ERT)
1 - Li, Y., Scott, C.R., Chamoles, N.A., Ghavami, A., Pinto, B.M., Turecek, F., Gelb, M.H. (2004) "Direct Multiplex
Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening," Clin. Chem., 50:1785-96.
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009875A_01
Printed in USA
March 2012